Results 21 to 30 of about 754 (163)

Mitochondrial Membrane Protein-Associated Neurodegeneration as The Cause of Psychosis

Psychiatry and Clinical Psychopharmacology, 2021
Hallucinations and delusions can be an initial symptom of many medical conditions as well as psychiatric disorders. These medical conditions can be endocrinological, immunological, neurological or genetic diseases.
Seda Kiraz, Murat Kiraz
doaj   +2 more sources

New NBIA subtype [PDF]

Neurology, 2013
To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype.Samples from 161 individuals with idiopathic NBIA were screened, and C19orf12 mutations were identified in 23 subjects.
Hogarth, P., Gregory, A., Kruer, M.C., Sanford, L., Wagoner, W., Natowicz, M.R., Egel, R.T., Subramony, S.H., Goldman, J.G., Berry-Kravis, E., Foulds, N.C., Hammans, S.R., Desguerre, I., Rodriguez, D., Wilson, C., Diedrich, A., Green, S., Tran, H., Reese, L., Woltjer, R.L., Hayflick, S.J.   +20 more
openaire   +4 more sources

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

Movement Disorders, 2023
AbstractBackgroundMitochondrial membrane protein‐associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive dystonia‐parkinsonism, lower motor neuron signs, optic atrophy, and abnormal iron deposits predominantly in the basal ganglia.
Angelini, Chloé, Durand, Christelle Marie, Fergelot, Patricia, Deforges, Julie, Vital, Anne, Menegon, Patrice, Sarrazin, Elizabeth, Bellance, Rémi, Mathis, Stéphane, Gonzalez, Victoria, Renaud, Mathilde, Frismand, Solène, Schmitt, Emmanuelle, Rouanet, Marie, Burglen, Lydie, Chabrol, Brigitte, Desnous, Béatrice, Arveiler, Benoît, Stevanin, Giovanni, Coupry, Isabelle, Goizet, Cyril   +20 more
openaire   +4 more sources

A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

Oman Medical Journal, 2017
Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report
Nabil Al Macki, Ismail Al Rashdi
doaj   +2 more sources

MPAN: Multi-Part Attention Network for Point Cloud Based 3D Shape Retrieval [PDF]

IEEE Access, 2020
3D shape retrieval is an important researching field due to its wide applications in computer vision and multimedia fields. With the development of deep learning technology, great progress has been made in recent years and lots of methods have achieved ...
Zirui Li, Junyu Xu, Yue Zhao, Wenhui Li, Weizhi Nie   +4 more
doaj   +2 more sources

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research [PDF]

Brain Sciences
Mitochondrial Membrane Protein-Associated Neurodegeneration is a rare monogenic form of neurodegeneration characterized by iron accumulation in the brain. It is due to variants in the orphan gene C19orf12.
Barbara Gnutti, Arcangela Iuso, Chloé Angelini, Dario Finazzi   +3 more
doaj   +2 more sources

Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene

Stem Cell Research
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurodegenerative diseases characterized by iron accumulation in the brain. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a subtype of NBIA caused by an ...
Ewelina Krogulec, Aneta M. Dobosz, Ewa Liszewska, Lena Majchrowicz, Agnieszka Dobrzyń   +4 more
doaj   +2 more sources

Closing the peroxy acetyl nitrate budget: observations of acyl peroxy nitrates (PAN, PPN, and MPAN) during BEARPEX 2007 [PDF]

Atmospheric Chemistry and Physics, 2009
Acyl peroxy nitrates (APNs, also known as PANs) are formed from the oxidation of aldehydes and other oxygenated VOC (oVOC) in the presence of NO2. There are both anthropogenic and biogenic oVOC precursors to APNs, but a detailed evaluation of this ...
B. W. LaFranchi, G. M. Wolfe, J. A. Thornton, S. A. Harrold, E. C. Browne, K. E. Min, P. J. Wooldridge, J. B. Gilman, W. C. Kuster, P. D. Goldan, J. A. de Gouw, M. McKay, A. H. Goldstein, X. Ren, J. Mao, R. C. Cohen   +15 more
doaj   +2 more sources

Genotype–phenotype correlations in MPAN due to C19orf12 variants

Annals of Indian Academy of Neurology, 2021
Josef Finsterer
doaj   +3 more sources

Patient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration. [PDF]

Mov Disord
Abstract Background Mitochondrial membrane protein–associated neurodegeneration (MPAN) from the neurodegeneration with brain iron accumulation (NBIA) family is a rare neurodegenerative disease marked by α‐synuclein aggregation, brain iron accumulation, and midbrain dopaminergic neuron degeneration.
Heger LM, Kertess L, Kaufhold C, Gubinelli F, Cardona-Alberich A, Özata G, Müller SA, Tschirner SK, Stehling O, Schifferer M, Peron C, Tiranti V, Lill R, Iuso A, Zecca L, Strupp M, Oertel W, Lichtenthaler SF, Burbulla LF.   +18 more
europepmc   +2 more sources